Familial Dysautonomia may be Slowed by a Popular Food Supplement

Familial Dysautonomia (FD) is a debilitating
neurodegenerative disorder that affects approximately one in 31 Jewish
people of Eastern European, or Ashkenazi, ancestry. FD affects aspects
of the autonomic nervous system such as swallowing, sweating, and pain
sensitivity, and places patients at increased risk for pulmonary and
gastrointestinal complications.

A new Tel Aviv University study finds that a popular food supplement
called phosphatidylserine may be instrumental in reversing the
detrimental effects of Familial Dysautonomia.

The research, led jointly by Prof. Gil Ast and Prof. Eran Perlson of
TAU's Sackler School of Medicine, generated a mouse model of FD to
examine the neuron degeneration caused by FD and to observe the positive
effects of the novel therapy. The study was published in PLOS Genetics.

‘Phosphatidylserine treatment has the potential to slow progression of neurodegeneration associated with Familial Dysautonomia.’

Trucks, highways, and neurons

"Neurons are the longest cells in our body," said Prof. Ast.
"'Highways' along our neurons allow 'trucks' with 'cargo' to supply our
neurons with essential supplies. In most neurodegenerative diseases
these highways - called microtubules - and the axonal transport
process are impaired. Our study demonstrates that alterations in the
stability of microtubules and disruptions in the transport may lead to
FD."

The research team, including Shiran Naftelberg-Blonder and other TAU
students, generated a mouse model of FD. The mice exhibited symptoms
similar to those experienced by human patients with FD, including
developmental delays, sensory abnormalities, unstable microtubules, and
impairment of axonal retrograde transport of nerve growth factor.

"We found that in neurons from our FD mice, the microtubular
highways were impaired by elevated levels of an enzyme called HDAC6,"
said Prof. Ast. "This impairment removed the adhesive that connects the
'bricks' of the highway. This led to less stabilized highways and to the
slower movement of cargo along it."

Once the mouse exhibiting FD symptoms was generated, the researchers
administered a phosphatidylserine treatment, which lowered the level of
the enzyme that removed the "glue" from the "bricks" of the
microtubular highways. Phosphatidylserine contains both amino acids and
fatty acids and is known to be effective in slowing down long-term
memory loss.

Finding a "path" to treatment

The researchers found that the treatment with phosphatidylserine
enhanced the stability of the microtubular "highways" and improved the
movement of "cargo" along these pathways. "We identified the molecular
pathway that leads to neurodegeneration in FD and demonstrated that
phosphatidylserine has the potential to slow progression of
neurodegeneration," said Prof. Ast.

"Phosphatidylserine can repair the activity in neurons from the FD
mouse by reducing the amount of the enzyme that removes the 'glue' from
the 'bricks,'" Prof. Ast continued. "This elevates the stability of the
'highways' and increases essential cargo movement along these
neurological pathways."

The researchers are currently researching ways of improving the
delivery of phosphatidylserine to the nervous system. Teva
Pharmaceuticals contributed support for this research through the
National Network of Excellence.

A diet food contains protein, fiber and good fats, which help in weight management. Diet foods if consumed regularly can aid in weight loss. Top diet foods include some nuts, vegetables, grain, fruits.

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